×
Entrez Id:
513
Gene Symbol:
ATP5F1D
ATP5F1D
0.100
CausalMutation
phenotype
CLINVAR
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
29478781
2018
×
Entrez Id:
3708
Gene Symbol:
ITPR1
ITPR1
0.100
CausalMutation
phenotype
CLINVAR
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
29663667
2018
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
phenotype
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898
2017
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
8506
Gene Symbol:
CNTNAP1
CNTNAP1
0.100
GeneticVariation
phenotype
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699
2017
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
0.100
CausalMutation
phenotype
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
0.100
CausalMutation
phenotype
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372
2017
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
GeneticVariation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
0.100
CausalMutation
phenotype
CLINVAR
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
26486474
2016
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
11277
Gene Symbol:
TREX1
TREX1
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
2475
Gene Symbol:
MTOR
MTOR
0.100
CausalMutation
phenotype
CLINVAR
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
27159400
2016
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593
2016
×
Entrez Id:
128989
Gene Symbol:
TANGO2
TANGO2
0.100
CausalMutation
phenotype
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781
2016
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.100
GeneticVariation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
26834045
2016
×
Entrez Id:
80704
Gene Symbol:
SLC19A3
SLC19A3
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
80704
Gene Symbol:
SLC19A3
SLC19A3
0.100
GeneticVariation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016